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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:macular corneal dystrophy
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Accession:DOID:2565 term browser browse the term
Definition:A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)
Synonyms:exact_synonym: Fehr corneal dystrophy;   Groenouw type II corneal dystrophy;   MCD;   corneal dystrophy, macular type;   corneal macular dystrophies
 narrow_synonym: MCDC1;   Macular Corneal Dystrophy Type 1;   Macular Corneal Dystrophy, Type I;   macular corneal dystrophy 1;   macular corneal dystrophy type II
 primary_id: MIM:217800
 alt_id: MESH:C537834;   MESH:C563270;   OMIA:002071
 xref: ICD10CM:H18.55;   ICD9CM:371.55;   NCI:C34793
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
macular corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,588,500...56,623,190
Ensembl chr19:56,588,500...56,623,190 		JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,627,596...56,733,099
Ensembl chr19:56,626,963...56,733,098 		JBrowse link
G Chst6 carbohydrate sulfotransferase 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II 		OMIM
CTD
ClinVar		 PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882769 More... NCBI chr19:39,860,729...39,881,019
Ensembl chr19:56,769,967...56,790,306 		JBrowse link
G Ctrb1 chymotrypsinogen B1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,562,220...56,566,978
Ensembl chr19:56,562,220...56,566,978 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,492,827...56,497,695
Ensembl chr19:56,482,924...56,509,197 		JBrowse link
G Tmem170a transmembrane protein 170A ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,833,947...39,846,807 JBrowse link
G Wdr59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,416,432...39,483,773
Ensembl chr19:56,325,438...56,393,132 		JBrowse link
G Zfp1 zinc finger protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,508,828...56,542,109
Ensembl chr19:56,509,280...56,542,773 		JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:56,403,816...56,490,901
Ensembl chr19:56,405,728...56,490,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        corneal disease 238
          corneal dystrophy 54
            stromal dystrophy 13
              macular corneal dystrophy 10
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              Hereditary Eye Diseases 1149
                corneal dystrophy 54
                  stromal dystrophy 13
                    macular corneal dystrophy 10
paths to the root